ArticleJournal of the American Heart Association2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Article in Journal of the American Heart Association, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
38 citing papers in PubMed, 59 citations in OpenAlex.
- Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry.JACC. Heart failure · 2026Article
- Rapidly Progressive Infantile Dilated Cardiomyopathy in Long-Olsen-Distelmaier Syndrome Associated withGenes · 2026Article
- Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Physical activity and competitive sport safety for children affected by inherited cardiac conditions and selected acquired cardiomyopathies: emerging evidence and areas for further inquiry.European journal of pediatrics · 2026Review
- Pediatric heart failure in the era of cardio-immunology: inflammatory-immune context phenotypes, diagnosis, and targeted management.Frontiers in immunology · 2026Review
- Pediatric cardiomyopathy in a resource-limited setting: clinical characteristics and determinants of medium-term outcomes.Frontiers in medicine · 2026Article
- Mortality Trends in Atrial Fibrillation With Cardiomyopathy Among Patients Aged 25 and Older in the United States.Pacing and clinical electrophysiology : PACE · 2025Article
- Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.Journal of genetic counseling · 2025Review
- Cardiac magnetic resonance and genetics in pediatric heart failure patients with nonischemia: prognostic implications.World journal of pediatrics : WJP · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.Frontiers in cardiovascular medicine · 2025Article
- Novel Mutation Lys30Glu in theInternational journal of molecular sciences · 2024Article
- Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.Genome medicine · 2024Article
- Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine.Arquivos brasileiros de cardiologia · 2024Review
- Noteworthy phenomena in pediatric inherited cardiomyopathy.World journal of pediatrics : WJP · 2024Article
- Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.European heart journal · 2024Article
- Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement.Frontiers in genetics · 2024Article
- Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.Circulation. Heart failure · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
32 authors at 18 institutions in 2 countries.
Funding
Abstract
Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice variations exist. Robust data on clinical testing practices and diagnostic yield in children are lacking. This study aimed to identify the genetic causes of cardiomyopathy in children and to investigate clinical genetic testing practices. Methods and Results Children with familial or idiopathic cardiomyopathy were enrolled from 14 institutions in North America. Probands underwent exome sequencing. Rare sequence variants in 37 known cardiomyopathy genes were assessed for pathogenicity using consensus clinical interpretation guidelines. Of the 152 enrolled probands, 41% had a family history of cardiomyopathy. Of 81 (53%) who had undergone clinical genetic testing for cardiomyopathy before enrollment, 39 (48%) had a positive result. Genetic testing rates varied from 0% to 97% between sites. A positive family history and hypertrophic cardiomyopathy subtype were associated with increased likelihood of genetic testing (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.